Department of Genetics Publications: January 30th – February 12th, 2022

Department of Genetics faculty, postdocs, students and collaborators published 15 papers during January 30^th – February 12^th, 2022.

 

Host-pathogen genetic interactions underlie tuberculosis susceptibility in genetically diverse mice. 

Smith CM, Baker RE, Proulx MK, Mishra BB, Long JE, Park SW, Lee HN, Kiritsy MC, Bellerose MM, Olive AJ, Murphy KC, Papavinasasundaram K, Boehm FJ, Reames CJ, Meade RK, Hampton BK, Linnertz CL, Shaw GD, Hock P, Bell TA, Ehrt S, Schnappinger D, Pardo-Manuel de Villena F, Ferris MT, Ioerger TR, Sassetti CM.

Elife. 2022 Feb 3;11:e74419. doi: 10.7554/eLife.74419. Online ahead of print.

PMID: 35112666

 

Woodsmoke particle exposure prior to SARS-CoV-2 infection alters antiviral response gene expression in human nasal epithelial cells in a sex-dependent manner. 

Brocke SA, Billings GT, Taft-Benz S, Alexis NE, Heise MT, Jaspers I.

Am J Physiol Lung Cell Mol Physiol. 2022 Feb 2. doi: 10.1152/ajplung.00362.2021. Online ahead of print.

PMID: 35107034

 

Super interactive promoters provide insight into cell type-specific regulatory networks in blood lineage cell types. 

Wen J, Lagler TM, Sun Q, Yang Y, Chen J, Harigaya Y, Sankaran VG, Hu M, Reiner AP, Raffield LM, Li Y.

PLoS Genet. 2022 Jan 31;18(1):e1009984. doi: 10.1371/journal.pgen.1009984. Online ahead of print.

PMID: 35100265

 

Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial. 

Rini C, Roche MI, Lin FC, Foreman AKM, Khan CM, Griesemer I, Waltz M, Lee K, O’Daniel JM, Evans JP, Berg JS, Henderson GE.

Patient Educ Couns. 2021 Dec;104(12):2989-2998. doi: 10.1016/j.pec.2021.04.026. Epub 2021 Apr 29.

PMID: 33966955 Clinical Trial.

 

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). 

Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Laing L, Rieke D, Kreutzfeldt S, Stenzinger A, Tamborero D, Benary M, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, Campregher PV, Warner JL, Rao S, Natesan M, Shen H, Venstrom J, Roy S, Tao K, Kanagal-Shamanna R, Xu X, Ritter DI, Pagel K, Krysiak K, Dubuc A, Akkari YM, Li XS, Lee J, King I, Raca G, Wagner AH, Li MM, Plon SE, Kulkarni S, Griffith OL, Chakravarty D, Sonkin D.

Genet Med. 2022 Jan 28:S1098-3600(22)00001-6. doi: 10.1016/j.gim.2022.01.001. Online ahead of print.

PMID: 35101336

 

Accelerated Development With Increased Bone Mass and Skeletal Response to Loading Suggest Receptor Activity Modifying Protein-3 as a Bone Anabolic Target. 

Pacharne S, Livesey M, Kadmiel M, Wang N, Caron KM, Richards GO, Skerry TM.

Front Endocrinol (Lausanne). 2022 Jan 12;12:807882. doi: 10.3389/fendo.2021.807882. eCollection 2021.

PMID: 35095771 Free PMC article.

 

Transcriptome-wide association study in UK biobank Europeans identifies associations with blood cell traits. 

Rowland B, Venkatesh S, Tardaguila M, Wen J, Rosen JD, Tapia AL, Sun Q, Graff M, Vuckovic D, Lettre G, Sankaran VG, Voloudakis G, Roussos P, Huffman JE, Reiner AP, Soranzo N, Raffield LM, Li Y.

Hum Mol Genet. 2022 Feb 9:ddac011. doi: 10.1093/hmg/ddac011. Online ahead of print.

PMID: 35138379

 

Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients. 

Sun Q, Liu W, Rosen JD, Huang L, Pace RG, Dang H, Gallins PJ, Blue EE, Ling H, Corvol H, Strug LJ, Bamshad MJ, Gibson RL, Pugh EW, Blackman SM, Cutting GR, O’Neal WK, Zhou YH, Wright FA, Knowles MR, Wen J, Li Y; Cystic Fibrosis Genome Project.

HGG Adv. 2022 Jan 11;3(2):100090. doi: 10.1016/j.xhgg.2022.100090. eCollection 2022 Apr 14.

PMID: 35128485 Free PMC article.

 

Placental genomics mediates genetic associations with complex health traits and disease. 

Bhattacharya A, Freedman AN, Avula V, Harris R, Liu W, Pan C, Lusis AJ, Joseph RM, Smeester L, Hartwell HJ, Kuban KCK, Marsit CJ, Li Y, O’Shea TM, Fry RC, Santos HP Jr.

Nat Commun. 2022 Feb 4;13(1):706. doi: 10.1038/s41467-022-28365-x.

PMID: 35121757

 

Evaluating the efficacy of a priming dose of cyclophosphamide prior to pembrolizumab to treat metastatic triple negative breast cancer. 

Anders CK, Woodcock MG, Van Swearingen AED, Moore DT, Sambade MJ, Laurie S, Robeson A, Kolupaev O, Cuaboy LA, Garrett AL, McKinnon K, Cowens K, Bortone D, Calhoun BC, Wilkinson AD, Carey L, Jolly T, Muss H, Reeder-Hayes K, Kaltman R, Jankowitz R, Gudena V, Olajide O, Perou C, Dees EC, Vincent BG, Serody JS.

J Immunother Cancer. 2022 Feb;10(2):e003427. doi: 10.1136/jitc-2021-003427.

PMID: 35121644 Free PMC article.

 

Hypertension promotes microbial translocation and dysbiotic shifts in the fecal microbiome of non-human primates. 

Vemuri R, Ruggiero AD, Whitfield JM, Dugan GO, Cline JM, Block MR, Guo H, Kavanagh K.

Am J Physiol Heart Circ Physiol. 2022 Feb 11. doi: 10.1152/ajpheart.00530.2021. Online ahead of print.

PMID: 35148233

 

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. 

Green TE, Motelow JE, Bennett MF, Ye Z, Bennett CA, Griffin NG, Damiano JA, Leventer RJ, Freeman JL, Harvey AS, Lockhart PJ, Sadleir LG, Boys A, Scheffer IE, Major H, Darbro BW, Bahlo M, Goldstein DB, Kerrigan JF, Heinzen EL, Berkovic SF, Hildebrand MS.

Hum Mol Genet. 2022 Feb 8:ddab366. doi: 10.1093/hmg/ddab366. Online ahead of print.

PMID: 35137044

 

Plotgardener: Cultivating precise multi-panel figures in R. 

Kramer NE, Davis ES, Wenger CD, Deoudes EM, Parker SM, Love MI, Phanstiel DH.

Bioinformatics. 2022 Feb 4:btac057. doi: 10.1093/bioinformatics/btac057. Online ahead of print.

PMID: 35134826

 

Parental Motivations for and Adaptation to Trio-Exome Sequencing in a Prospective Prenatal Testing Cohort: Beyond the Diagnosis. 

Talati AN, Gilmore KL, Hardisty EE, Lyerly AD, Rini C, Vora NL.

Prenat Diagn. 2022 Feb 7. doi: 10.1002/pd.6112. Online ahead of print.

PMID: 35132674

 

Mutations in Drosophila tRNA processing factors cause phenotypes similar to Pontocerebellar Hypoplasia. 

Schmidt CA, Min LY, McVay MH, Giusto JD, Brown JC, Salzler HR, Matera AG.

Biol Open. 2022 Feb 8:bio.058928. doi: 10.1242/bio.058928. Online ahead of print.

PMID: 35132432